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Titolo:
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation
Autore:
Wang, YH; Taroni, F; Garavagalia, B; Longo, N;
Indirizzi:
Emory Univ, Dept Pediat, Div Med Genet, Atlanta, GA 30322 USA Emory Univ Atlanta GA USA 30322 iat, Div Med Genet, Atlanta, GA 30322 USA Ist Nazl Neurol C Besta, Milan, Italy Ist Nazl Neurol C Besta Milan Italy t Nazl Neurol C Besta, Milan, Italy
Titolo Testata:
HUMAN MUTATION
fascicolo: 5, volume: 16, anno: 2000,
pagine: 401 - 407
SICI:
1059-7794(2000)16:5<401:FAOMIT>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
ORGANIC CATION/CARNITINE TRANSPORTER; GLUCOSE TRANSPORTERS; CARDIOMYOPATHY; IDENTIFICATION; SEQUENCE;
Keywords:
carnitine transport; carnitine deficiency; fatty acid oxidation; cardiomyopathy; SLC22A5; OCTN2;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Longo, N Emory Univ, Dept Pediat, Div Med Genet, 2040 Ridgewood Dr, Atlanta, GA 30322 USA Emory Univ 2040 Ridgewood Dr Atlanta GA USA 30322 a, GA 30322 USA
Citazione:
Y.H. Wang et al., "Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation", HUM MUTAT, 16(5), 2000, pp. 401-407

Abstract

Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport, This disease is caused by mutations in the novel organic cation transporter OCTN2 (SLC22A5 gene), The disease can present early in life with hypoketotic hypoglycemia or later in lift: with skeletal myopathy or cardiomyopathy, To determine whether the variation in phenotypic severity is due to mutations retaining residual function, we extended mutational analysis of OCTN2 to four additional European families with primary carnitine deficiency, Three patients were homozygous for novel missense mutations (R169W, G242V, A301D), The fourth patient was compound heterozygous fur R169W and W351R substitutions, Stable expression of all the mutations in CHO cells confirmed that all mutations abolished carnitine transport, with the exception of the A301D mutation in whichresidual carnitine transport was 2-3% of the value measured in cells expressing the normal OCTN2 cDNA, Analysis of the patients characterized in molecular derail by our laboratory failed to indicate a correlation between residual carnitine transport and severity of the phenotype or age at presentation, Hum Mutat 16:401-407, 2000, (C) 2000 Wiley-Liss, Inc.

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Documento generato il 11/07/20 alle ore 04:42:36